Meier-Gorlin syndrome

Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate ...1

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Symptoms of Meier-Gorlin syndrome

Symptoms: Most people with Meier-Gorlin syndrome have all three characteristic features of this condition, including small ears, absent or underdeveloped kneecaps (patellae), and short stature.[2] Additional features may include small head size, low-set ears, small mouth, full ...2

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Causes of Meier-Gorlin syndrome

Cause: Meier-Gorlin syndrome type 1 is caused by homozygous or compound heterozygous mutations in the ORC1 gene on chromosome 1p32. Meier-Gorlin syndrome type 2 is caused by homozygous or compound heterozygous mutations in the ORC4 gene on chromosome ...3

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Types of Meier-Gorlin syndrome

Some types of this condition may include:4 Types of Meier-Gorlin syndrome:

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Genetics of Meier-Gorlin syndrome

Genetic Changes: Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 , provides instructions for making one of a group of proteins known as the pre-replication ...5

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)6 ...

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  1. Source: GHR (NLM/NIH): condition/ meier-gorlin-syndrome
  2. Source: GARD (NIH): diseases/ 2033/ meier-gorlin-syndrome
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GHR (NLM/NIH): condition/ meier-gorlin-syndrome
  6. ibid.

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